Canonical Allele Identifier: CA413704486

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76763990T>A (hg19) ; chrX:g.77508512T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508512T>A , CM000685.2:g.77508512T>A	GRCh38
NC_000023.10:g.76763990T>A , CM000685.1:g.76763990T>A	GRCh37
NC_000023.9:g.76650646T>A	NCBI36
NG_008838.2:g.282710A>T
NG_008838.3:g.282758A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7318A>T MANE Select	ENSP00000362441.4:p.Lys2440Ter
ENST00000675732.1:c.2416A>T	ENSP00000502598.1:p.Lys806Ter
ENST00000373344.9:c.7318A>T	ENSP00000362441.4:p.Lys2440Ter
ENST00000395603.7:c.7204A>T	ENSP00000378967.3:p.Lys2402Ter
ENST00000480283.5:c.*6946A>T	ENSP00000480196.1:n.*6946A>T
ENST00000623706.3:n.5638A>T
ENST00000624766.1:n.549A>T
NM_000489.4:c.7318A>T	NP_000480.3:p.Lys2440Ter
NM_138270.3:c.7204A>T	NP_612114.2:p.Lys2402Ter
XM_005262153.3:c.7315A>T	XP_005262210.2:p.Lys2439Ter
XM_005262154.3:c.7231A>T	XP_005262211.2:p.Lys2411Ter
XM_005262155.3:c.7201A>T	XP_005262212.2:p.Lys2401Ter
XM_005262156.3:c.7153A>T	XP_005262213.2:p.Lys2385Ter
XM_005262157.3:c.7114A>T	XP_005262214.2:p.Lys2372Ter
XM_006724666.2:c.7201A>T	XP_006724729.1:p.Lys2401Ter
XM_006724667.2:c.7039A>T	XP_006724730.1:p.Lys2347Ter
XR_938400.1:n.8910A>T
NM_000489.5:c.7318A>T	NP_000480.3:p.Lys2440Ter
XM_005262153.5:c.7315A>T	XP_005262210.2:p.Lys2439Ter
XM_005262154.5:c.7231A>T	XP_005262211.2:p.Lys2411Ter
XM_005262155.4:c.7201A>T	XP_005262212.2:p.Lys2401Ter
XM_005262156.4:c.7153A>T	XP_005262213.2:p.Lys2385Ter
XM_005262157.5:c.7114A>T	XP_005262214.2:p.Lys2372Ter
XM_006724666.4:c.7201A>T	XP_006724729.1:p.Lys2401Ter
XM_006724667.3:c.7039A>T	XP_006724730.1:p.Lys2347Ter
XM_017029601.2:c.7228A>T	XP_016885090.1:p.Lys2410Ter
XM_017029602.1:c.7198A>T	XP_016885091.1:p.Lys2400Ter
XM_017029603.1:c.7150A>T	XP_016885092.1:p.Lys2384Ter
XM_017029604.2:c.7117A>T	XP_016885093.1:p.Lys2373Ter
XM_017029605.1:c.7114A>T	XP_016885094.1:p.Lys2372Ter
XM_017029606.2:c.7087A>T	XP_016885095.1:p.Lys2363Ter
XM_017029607.2:c.7084A>T	XP_016885096.1:p.Lys2362Ter
XM_017029608.2:c.7036A>T	XP_016885097.1:p.Lys2346Ter
XM_017029609.1:c.7000A>T	XP_016885098.1:p.Lys2334Ter
XM_017029610.1:c.6997A>T	XP_016885099.1:p.Lys2333Ter
XM_017029611.1:c.6952A>T	XP_016885100.1:p.Lys2318Ter
XR_001755700.2:n.7617A>T
NM_138270.4:c.7204A>T	NP_612114.2:p.Lys2402Ter
NM_000489.6:c.7318A>T MANE Select	NP_000480.3:p.Lys2440Ter
NM_138270.5:c.7204A>T	NP_612114.2:p.Lys2402Ter